5alpha-androstan-3alpha,17beta-diol monosulfate (2) to 5alpha-androstan-3beta,17alpha-diol disulfate

Numerator Metabolite

Metabolite Accession: GCST90199983
Name: 5alpha-androstan-3alpha,17beta-diol monosulfate (2)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of 5alpha-androstan-3beta,17alpha-diol disulfate
Metabolite Accession: GCST90199852
Name: 5alpha-androstan-3beta,17alpha-diol disulfate
Hmdb Id: HMDB0094682
Super Pathway: NA
Sub Pathway: NA
Inchikey: JHFAETDERBWUOO

Associated Genomic Regions

Region: rs62129966

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
0.422
Position:
48374950
SE (Ratio):
0.026
Effect Allele:
A
Z-score (Ratio):
16.069
Reference Allele:
C
-log10(P):
-132.117
MAF:
0.168
Beta (Num):
0.248
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
-0.174
SE (Den):
0.022
No CNV overlap
rQTL cluster:
7
Reaction Distance:
NA
Closest Genes:
SULT2A1 TPRX2P CRX TPRX1 SEPW1

LLM Analysis

Numerator Metabolite Explanation:

Androgen/Steroid Metabolism

Denominator Metabolite Explanation:

Androgen/Steroid Metabolism

Ratio Explanation:

The ratio of a monosulfated to a disulfated androstane diol reflects the activity of sulfotransferase enzymes, such as SULT2A1, in steroid metabolism.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Reduced SULT2A1 activity, indicated by the steroid sulfate ratio, is genetically linked to cholelithiasis (gallstones).3[1], 4[2] SULT2A1 metabolizes steroids and bile acids, and altered steroid metabolism can affect bile composition, leading to an increased risk of gallstone formation.3[3], 5[4], 6[5]

Phenotype Driver:

Gene-centric:SULT2A1

Downloads

Download the full rQTL summary statistics file for this metabolite ratio. Data contains the loci listed here. For each SNP (chromosome, effect_allele, reference_allele, pos_name, position) these columns contain the summary statistics of the ratio (beta, pgain, pval, se, z), the numerator metabolite (beta_1, pval_1, n_iids_1, effect_allele_frequency_1, se_1, z_1) and the denominator metabolite (beta_2, pval_2, n_iids_2, effect_allele_frequency_2, se_2, z_2)

Download rQTL Data